title: Screening for fetal anomalies by ultrasound at 14 and 21 weeks.
abstract: A prospective study of screening for fetal abnormalities and chromosomal defects was carried out by ultrasound examination at 13-15 weeks of gestation and 20-22 weeks; the first scan was performed transvaginally and the second transabdominally. During a 4-year period (1991-95), 3490 unselected consecutive pregnancies with a total of 3514 fetuses were examined. There were 21 chromosomally abnormal fetuses, including ten with trisomy 21, and, in 19 (90.5%), fetal defects were detected at the first and/or second ultrasound examination. The most effective marker for chromosomal defects was increased nuchal translucency thickness (> or = 4 mm) at the 13-15-week scan, which was present in seven of the ten fetuses with trisomy 21 and in six of the 11 with other chromosomal abnormalities.
authors.affiliation: Department of Obstetrics and Gynecology, Istituto per l'Infanzia Burlo Garofolo, Trieste, Italy.
authors.forename: G
authors.initials: G
authors.lastname: D'Ottavio
authors.forename: Y J
authors.initials: YJ
authors.lastname: Meir
authors.forename: M A
authors.initials: MA
authors.lastname: Rustico
authors.forename: V
authors.initials: V
authors.lastname: Pecile
authors.forename: L
authors.initials: L
authors.lastname: Fischer-Tamaro
authors.forename: G
authors.initials: G
authors.lastname: Conoscenti
authors.forename: R
authors.initials: R
authors.lastname: Natale
authors.forename: G P
authors.initials: GP
authors.lastname: Mandruzzato
mesh_terms: D000328:Adult; D002869:Chromosome Aberrations / Q000145:classification / Q000000981:diagnostic imaging*; D025063:Chromosome Disorders; D002877:Chromosomes, Human / Q000235:genetics; D019160:Endosonography; D005260:Female; D005315:Fetal Diseases / Q000000981:diagnostic imaging* / Q000235:genetics; D005333:Fetus / Q000002:abnormalities*; D005865:Gestational Age; D006801:Humans; D007621:Karyotyping; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D011262:Pregnancy Trimester, Second; D015203:Reproducibility of Results; D012189:Retrospective Studies; D012680:Sensitivity and Specificity; D016216:Ultrasonography, Prenatal